Rare Diseases Symptoms Automatic Extraction
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Cortical dysplasia with prominent Rosenthal fiber formation in a case of intractable pediatric epilepsy.
[alexander disease]
We
report
a
case
of
a
5
-
year
-old
boy
with
intractable
epilepsy
who
underwent
therapeutic
corticectomy
.
Histopathologic
findings
within
the
resection
specimen
included
severe
cortical
dysplasia
associated
with
abundant
subpial
and
intraparenchymal
Rosenthal
fibers
in
a
large
right
frontal
lesion
that
merged
into
the
basal
ganglia
.
Rosenthal
fiber
proliferation
may
represent
a
reactive
process
,
are
frequent
in
pilocytic
astrocytomas
,
and
are
a
defining
feature
of
Alexander
disease
.
There
was
no
evidence
of
neoplasm
or
leukodystrophy
in
this
case
.
Genetic
analysis
of
the
specimen
showed
a
few
previously
reported
polymorphisms
but
no
mutation
in
the
GFAP
gene
.
This
case
is
unique
among
several
hundred
cortical
resection
specimens
that
we
have
studied
,
including
numerous
cases
of
severe
cortical
dysplasia
.
Diseases
Validation
Diseases presenting
"neoplasm"
symptom
adrenal incidentaloma
alexander disease
aromatase deficiency
carcinoma of the gallbladder
cholangiocarcinoma
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dentin dysplasia
erdheim-chester disease
esophageal adenocarcinoma
esophageal carcinoma
familial hypocalciuric hypercalcemia
focal myositis
hodgkin lymphoma, classical
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
kabuki syndrome
liposarcoma
lymphangioleiomyomatosis
pleomorphic liposarcoma
primary effusion lymphoma
proteus syndrome
pyomyositis
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wolf-hirschhorn syndrome
This symptom has already been validated